Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29739 | 89440;89441;89442 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| N2AB | 28098 | 84517;84518;84519 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| N2A | 27171 | 81736;81737;81738 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| N2B | 20674 | 62245;62246;62247 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| Novex-1 | 20799 | 62620;62621;62622 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| Novex-2 | 20866 | 62821;62822;62823 | chr2:178553790;178553789;178553788 | chr2:179418517;179418516;179418515 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1700259287  |
None | 0.891 | N | 0.559 | 0.183 | 0.178374595973 | gnomAD-4.0.0 | 1.63036E-06 | None | None | None | None | N | None | 0 | 2.3406E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.062 | N | 0.148 | 0.072 | 0.0482279557977 | gnomAD-4.0.0 | 1.63036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92879E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3719 | ambiguous | 0.3368 | benign | -0.824 | Destabilizing | 0.991 | D | 0.479 | neutral | None | None | None | None | N |
| A/D | 0.4258 | ambiguous | 0.4048 | ambiguous | -1.173 | Destabilizing | 0.801 | D | 0.619 | neutral | N | 0.450005725 | None | None | N |
| A/E | 0.31 | likely_benign | 0.3014 | benign | -1.231 | Destabilizing | 0.842 | D | 0.523 | neutral | None | None | None | None | N |
| A/F | 0.3623 | ambiguous | 0.337 | benign | -0.966 | Destabilizing | 0.949 | D | 0.614 | neutral | None | None | None | None | N |
| A/G | 0.1055 | likely_benign | 0.108 | benign | -1.023 | Destabilizing | 0.625 | D | 0.434 | neutral | N | 0.409388467 | None | None | N |
| A/H | 0.4967 | ambiguous | 0.4635 | ambiguous | -1.205 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| A/I | 0.2342 | likely_benign | 0.208 | benign | -0.369 | Destabilizing | 0.728 | D | 0.51 | neutral | None | None | None | None | N |
| A/K | 0.5303 | ambiguous | 0.4923 | ambiguous | -1.285 | Destabilizing | 0.842 | D | 0.52 | neutral | None | None | None | None | N |
| A/L | 0.1622 | likely_benign | 0.1477 | benign | -0.369 | Destabilizing | 0.525 | D | 0.452 | neutral | None | None | None | None | N |
| A/M | 0.2077 | likely_benign | 0.1842 | benign | -0.297 | Destabilizing | 0.974 | D | 0.545 | neutral | None | None | None | None | N |
| A/N | 0.2257 | likely_benign | 0.2103 | benign | -0.955 | Destabilizing | 0.842 | D | 0.605 | neutral | None | None | None | None | N |
| A/P | 0.5704 | likely_pathogenic | 0.424 | ambiguous | -0.473 | Destabilizing | 0.891 | D | 0.559 | neutral | N | 0.482424788 | None | None | N |
| A/Q | 0.3245 | likely_benign | 0.3073 | benign | -1.143 | Destabilizing | 0.974 | D | 0.558 | neutral | None | None | None | None | N |
| A/R | 0.4734 | ambiguous | 0.4261 | ambiguous | -0.858 | Destabilizing | 0.974 | D | 0.555 | neutral | None | None | None | None | N |
| A/S | 0.0785 | likely_benign | 0.0808 | benign | -1.233 | Destabilizing | 0.062 | N | 0.148 | neutral | N | 0.38364466 | None | None | N |
| A/T | 0.0806 | likely_benign | 0.0709 | benign | -1.206 | Destabilizing | 0.022 | N | 0.133 | neutral | N | 0.420277464 | None | None | N |
| A/V | 0.1282 | likely_benign | 0.1174 | benign | -0.473 | Destabilizing | 0.012 | N | 0.17 | neutral | N | 0.461049438 | None | None | N |
| A/W | 0.7348 | likely_pathogenic | 0.7056 | pathogenic | -1.292 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | N |
| A/Y | 0.4564 | ambiguous | 0.442 | ambiguous | -0.913 | Destabilizing | 0.974 | D | 0.616 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.